hrp0094p2-381 | Pituitary, neuroendocrinology and puberty | ESPE2021

Characterization of puberty development in a large cohort of patients with Noonan syndrome with molecular diagnosis

Rezende Raissa , Jorge Alexander , Noronha Renata , Keselman Ana , Andrade Nathalia , Dantas Naiara , Bertola Debora , Malaquias Alexsandra ,

Introduction: Noonan syndrome (NS) is a relative frequent genetic disorder, mainly characterized by dysmorphic face features, congenital heart defects and short stature. Though delayed pubertal development has been described in both sexes, the physiopathological root remains unclear. This study aims at characterizing puberty development in Noonan syndrome.Materials and Methods: The study population included 111 individuals with a molecul...

hrp0097p1-222 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Height evaluation in a group of patients with Prader Willi syndrome after 3 years of treatment with growth hormone

Lara Emma , Castel Molineli Ana , Pintado Mónica , Luis Ruibal Jose

Introduction: Prader–Willi syndrome (PWS) is a genetic disorder caused by the lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. Clinical picture of PWS changes across life stages. PWS is characterized by endocrine abnormalities, such as growth hormone (GH) deficiency, obesity, central adrenal insufficiency, hypothyroidism, hypogonadism, and complex behavioural and intellectual difficulties. The recombinant human growt...

hrp0097p1-159 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Long-Term Effect of Gonadotropin-Releasing Hormone Analogue Therapy on Adult Height in Girls with Central Precocious Puberty Diagnosed before 4 Years of Age

Freire Analía , Gryngarten Mirta , Gabriela Ballerini María , Vieites Ana , Gabriela Ropelato María , Arcari Andrea

Background: Central precocious puberty (CPP) is uncommon before the age of 4 and treatment with GnRH analogues have shown unequivocal benefits. CPP during or near mini puberty entails differential clinical and biochemical features in the diagnosis and leads to longer treatment and follow-up. There are very limited studies with long-term outcomes about CPP girls exclusively < 4 years of age regarding growth, menarche, and adult height after GnRHa withdrawal....

hrp0097p2-51 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Primary hyperparathyroidism in a pediatric patient with tuberous sclerosis

Lucia Feller Ana , Mariana Aziz , Victor Ayarzabal , Ciaccio Marta , Gisela Viterbo

Introduction: Tuberous sclerosis (TS) is a rare, autosomal dominant, multisystem disease with a frequency of 1:6,000-10,000. It is caused by variants in the genes encoding hamartin (TSC 1) and tuberin (TSC 2) that normally act as inhibitors of the mTOR signaling cascade that regulates cell proliferation and migration, angiogenesis, and cell metabolism. The most frequent clinical presentation includes hypochromic macules, angiofibromas, hamartomas in the centra...

hrp0097p2-36 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Unusual presentation of pheochromocytoma (PCC) and paraganglioma (PGL) in two sisters with von Hippel Lindau disease (VHL)

Vieites Ana , J. Benítez Amanda , Eugenia Rodríguez María , Bignon Horacio , Sansó Gabriela

Introduction: Von Hippel-Lindau disease(VHL) is an autosomal dominantly inherited tumor syndrome that predisposes to development benign and malignant tumors. The prevalence of VHL disease is one in 36,000, and the penetrance is higher than 90%. PCC occur in up to 20% of VHL patients. Classically, it is characterized by having an adrenal location, mostly bilateral and being derived from the sympathetic nervous system, resulting in the releases of catecholamines...

hrp0097p2-148 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Diagnostic dilemma in an adolescent boy with hypopituitarism – pituitary apoplexy or Rathke cleft cyst?

La Grasta Sabolić Lavinia , Kovačević Ana , Požgaj Šepec Marija , Smoljan Mia

Background: Pituitary apoplexy (PA) is a rare clinical emergency in pediatric population. In patients with apoplexy-like symptoms, clinical and imaging features of PA, caused by hemorrhage in a pre-existing macroadenoma, are sometimes difficult to distinguish from Rathke cleft cyst (RCC).Case presentation: A 14.5-year-old boy, with an uneventful past medical history except for mild COVID-19 infection six months earlier, ...

hrp0097p2-278 | Late Breaking | ESPE2023

Endocrine dysfunction in Charge Syndrome – short case series

Costa Cristiana , Laura Fitas Ana , Diamantino Catarina , Lopes Patrícia , Limbert Catarina , Lopes Lurdes

Introduction: CHARGE syndrome is a rare constellation of congenital malformations caused by mutations in CHD7 gene. The acronym stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities, and/or hearing loss. Endocrine disorders associated with this syndrome include hypogonadotropic hypogonadism, ...

hrp0098p2-44 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Use of denosumab in aneurysmal bone cyst and giant cell tumor in a third-level pediatric center

Feller Ana , Aziz Mariana , Gil Silvia , Nader Julio , Bermejo Natalia , Soria Ianina , Ciaccio Marta , Viterbo Gisela

Introduction: Denosumab is a RANK-L inhibitory monoclonal antibody approved in adults for treatment of aneurysmal bone cyst (ABC) and giant cell tumor (GCT). Although it has shown to improve postsurgical morbidity and stop progression in unresectable forms, there is limited data to guide its use in growing patients, with reports of endocrinology disorders.Aim: Evaluate frequency, presentation and treatment of adverse eff...

hrp0098p3-170 | Growth and Syndromes | ESPE2024

Growth velocity patterns after pubertal blockage in trans adolescents: one center study.

Dominguez-Riscart Jesus , Ruiz-Ramos Sandra , Romero-Sayago Blanca , Garcia-Zarzuela Ana

Introduction: Puberty generates hormonal changes which induce physical changes like the development of secondary sexual characteristics, which cause discomfort in the transgender person. GnRHa stops puberty, which reduces the changes in the body and allows the teenager to have time to consider their gender identity. However, an expected side effect of these drugs is the reduction of growth velocity.Objective: Determine t...

hrp0086p2-p774 | Pituitary and Neuroendocrinology P2 | ESPE2016

Insulin Sensitivity in Girls with Central Precocious Puberty at Diagnosis and at 6 Months of GnRH Analogue Treatment

Arcari Andrea , Freire Analia , Escobar Maria Eugenia , Ballerini Maria Gabriela , Ropelato Maria Gabriela , Bergada Ignacio , Gryngarten Mirta

Background: Puberty is associated with a physiological decline in insulin sensitivity. Overweight and obesity are common among girls with Central Precocious Puberty (CPP). CPP and early menarche have been considered as risk factors for obesity and cardiovascular diseases during adulthood. Besides, concern has been raised by the potential impact of GnRH analogues (GnRH-a) treatment on body weight and metabolic profile.Objective and hypotheses: To evaluate...